Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia

Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Pediatric and Adults Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

NCT06773026 ·Status: RECRUITING ·Phase: PHASE2

Hepatic Histopathology in Urea Cycle Disorders

NCT04908319 ·Status: RECRUITING

Aromatic Amino Acid Metabolism in the Pathogenesis of Kwashiorkor

NCT00429351 ·Status: COMPLETED

Influence of Metabolic Syndrome on Endogenous Oxalate Synthesis

NCT06735924 ·Status: RECRUITING ·Phase: NA

Phase I Study of Ex Vivo Liver-Directed Gene Therapy for Familial Hypercholesterolemia

NCT00004809 ·Status: COMPLETED ·Phase: PHASE1

Energy Requirements in Mitochondrial Disease

NCT01776918 ·Status: COMPLETED

Phase I Study of Colchicine Therapy in Childhood Hepatic Cirrhosis

NCT00004368 ·Status: UNKNOWN ·Phase: PHASE1

Phase II Study of Lactulose and Circadian Rhythms in Patients With Cirrhosis

NCT00004796 ·Status: COMPLETED ·Phase: PHASE2

A Pilot Study to Characterize Bile Acid Metabolism and Dysbiosis in Primary Sclerosing Cholangitis

NCT02464020 ·Status: COMPLETED ·Phase: PHASE1

Randomized Study of the Use of Intravenous Choline Supplementation in Long Term Total Parenteral Nutrition

NCT00004697 ·Status: COMPLETED ·Phase: NA

Phase II Study of Cholesterol- and Cholestanol-Free Diet, Lovastatin, and Chenodeoxycholic Acid for Cerebrotendinous Xanthomatosis

NCT00004346 ·Status: UNKNOWN ·Phase: PHASE2

Adult Pilot Study for Reference Ranges and Optimal Cut-offs for the Sucrose Challenge Test and Sucrose Breath Test

NCT05045495 ·Status: COMPLETED

Examination of the Lipid Metabolism of the Liver After Choline Substitution in Cystic Fibrosis

NCT03312140 ·Status: COMPLETED ·Phase: NA

Effects of Carnitine Supplementation on Liver and Muscle

NCT03439917 ·Status: COMPLETED ·Phase: NA

Study of Tauroursodeoxycholic Acid for Hepatobiliary Disease in Cystic Fibrosis

NCT00004441 ·Status: COMPLETED ·Phase: NA

Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders

NCT00718627 ·Status: COMPLETED ·Phase: PHASE2

Study of the Safety and Tolerability of AXA1665 in Subjects With Mild and Moderate Hepatic Insufficiency

NCT04147936 ·Status: COMPLETED ·Phase: NA

The Role of Lactate in Lipolysis and Catabolism in Humans

NCT04710875 ·Status: COMPLETED ·Phase: NA

Smith-Lemli-Opitz Syndrome and Cholic Acid

NCT03720990 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

NCT06069375 ·Status: SUSPENDED ·Phase: PHASE2

CoA-Z in Pantothenate Kinase-associated Neurodegeneration (PKAN)

NCT04182763 ·Status: COMPLETED ·Phase: NA

An Observational Study of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype

NCT01528917 ·Status: COMPLETED

Dietary Allowance of Methyl Donor Nutrients to Minimize Risks of Non-alcoholic Fatty Liver Progression

NCT05291104 ·Status: COMPLETED ·Phase: NA

Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency

NCT00006061 ·Status: COMPLETED ·Phase: NA

Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase Deficiency

NCT01488097 ·Status: COMPLETED ·Phase: PHASE2